Test Directory
JAK2 Exon12
Containers - Adult
K2 EDTA KE Blood (Pink Top)
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Reference ranges
Not Detected
Laboratory Site
Old Dalkeith Road
Edinburgh
EH16 4SA
Transport arrangements
Specimens should be kept at room temperature and sent directly to the laboratory as soon as possible by first class post.
Sample storage arrangements
Specimens must NOT be frozen. If a delay in sending a specimen is unavoidable it must be refrigerated overnight.
How to request
Request form, or can be added onto a previous JAK2 V617F sample via the MPN Mailbox: Molecular.MPN@nhslothian.scot.nhs.uk
Availability
Test not available during restricted service.
Anticipated turnaround
28 days
What happens if the result is positive or abnormal
Genetic results will not be telephoned. They can be emailed if secure adresses are verified.
Static information/disclaimer
This test is accredited to ISO 15189:2012
General additional information
Variants in JAK2 Exon12 are tested for in patients with suspected “Polycythaemia vera?” and have previously tested 'Not Detected' for JAK2 V617F. The JAk2 Exon12 is screened using an HRM method, followed by direct sequencing for the confirmation and classification of any potential mutations detected. This HRM method is sensitive to approximately 5-10%.
See the relevant BCSH guidelines for further information:
https://b-s-h.org.uk/guidelines/guidelines/diagnosis-and-management-of-polycythaemia-vera/
Citrated anticoagulated venous blood or 150µl DNA may be sent instead of an EDTA specimen